AutismKB 2.0

Annotation Detail for KCNH2


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Basic Information Top
Gene Symbol:KCNH2 ( ERG1,HERG,HERG1,Kv11.1,LQT2,SQT1 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 2
Band: 7q36.1
Quick LinksEntrez ID:3757; OMIM: 152427; Uniprot ID:KCNH2_HUMAN; ENSEMBL ID: ENSG00000055118; HGNC ID: 6251
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
320Phosphoserine.
598N-linked (GlcNAc...).
629Selectivity filter (By similarity).
Location(AA) Modifications Resource
283Phosphoserine (PKA
598N-linked (GlcNAc...).Swiss-Prot 53.0
1137Phosphoserine (PKA
Location(AA) Modification Resource
74Phosphothreonine(PKC)HMM predict
179Phosphoserine(PKB)HMM predict
179Phosphoserine(CK1)HMM predict
201Phosphothreonine(MAPK)HMM predict
207O-linkedHMM predict
239Phosphoserine(CDC2)HMM predict
243O-linkedHMM predict
255Phosphoserine(IKK)HMM predict
266O-linkedHMM predict
275Phosphoserine(IKK)HMM predict
283Phosphoserine(PKG)HMM predict
284Phosphoserine(PKB)HMM predict
304Phosphoserine(PKB)HMM predict
304O-linkedHMM predict
305Phosphothreonine(PKA)HMM predict
317N-linkedHMM predict
329Phosphothreonine(PKC)HMM predict
351Phosphoserine(CDC2)HMM predict
369N-linkedHMM predict
543Phosphoserine(CK1)HMM predict
598N-linkedHMM predict
845Phosphotyrosine(EGFR)HMM predict
871Phosphoserine(CDC2)HMM predict
890Phosphoserine(PKA)HMM predict
890Phosphoserine(PKC)HMM predict
895Phosphothreonine(PKA)HMM predict
912MethylarginineHMM predict
919O-linkedHMM predict
920MethylarginineHMM predict
930Phosphoserine(CDC2)HMM predict
933O-linkedHMM predict
933Phosphoserine(ATM)HMM predict
933Phosphoserine(IKK)HMM predict
937Phosphoserine(CDC2)HMM predict
937Phosphoserine(IKK)HMM predict
937Phosphoserine(CDK)HMM predict
937Phosphoserine(MAPK)HMM predict
937Phosphoserine(ATM)HMM predict
940Phosphoserine(CK2)HMM predict
940PhosphoserineHMM predict
941PhosphoserineHMM predict
941Phosphoserine(CK1)HMM predict
941Phosphoserine(CK2)HMM predict
951Phosphoserine(CDC2)HMM predict
959O-linkedHMM predict
960Phosphoserine(CDK)HMM predict
960Phosphoserine(CDC2)HMM predict
1009Phosphotyrosine(EGFR)HMM predict
1019Phosphothreonine(CDK)HMM predict
1029Phosphoserine(CDC2)HMM predict
1072Phosphothreonine(PKC)HMM predict
1078Phosphotyrosine(SRC)HMM predict
1079O-linkedHMM predict
1082O-linkedHMM predict
1083O-linkedHMM predict
1083O-linkedHMM predict
1089O-linkedHMM predict
1090O-linkedHMM predict
1091O-linkedHMM predict
1092Phosphoserine(CDK)HMM predict
1092Phosphoserine(CDC2)HMM predict
1092Phosphoserine(IKK)HMM predict
1092O-linkedHMM predict
1098Phosphoserine(CDC2)HMM predict
1098Phosphoserine(MAPK)HMM predict
1098O-linkedHMM predict
1109Phosphoserine(ATM)HMM predict
1109Phosphoserine(IKK)HMM predict
1109Phosphoserine(CK1)HMM predict
1137Phosphoserine(PKA)HMM predict
1137Phosphoserine(PKC)HMM predict
1137Phosphoserine(PKG)HMM predict
1137Phosphoserine(CAMK2)HMM predict
1137Phosphoserine(CK1)HMM predict
1137PhosphoserineHMM predict
1147Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172056
  • Location:chr7 150277447-150305946
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 150306266 150306573 307 473
CTCF G2GSE9613 150308719 150309306 587 3066
H3K27me3 colorectalcancer 150308692 150310305 1613 3552
KLF4 hESGSE17917 150307118 150307418 300 1322
NRSF JurkatGSE13047 150310711 150312989 2278 5904
NRSF mAbJurkat 150307643 150310305 2662 3028
NRSF mAbJurkat 150311036 150312874 1838 6009
NRSF-mono JurkatQuESTdata 150310710 150312985 2275 5901
NRSF pAbJurkat 150308382 150310305 1923 3397
NRSF pAbJurkat 150311036 150312874 1838 6009
NRSF-poly JurkatQuESTdata 150310763 150313225 2462 6048
PHF8 293TGSE20725 150306054 150306755 701 458
TFAP2C MCF7GSE21234 150311969 150312227 258 6152
hScc1 BcellGSE12603 150306266 150306529 263 451
hScc1 G2GSE9613 150306266 150306573 307 473
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 150291078 150291379 301 0
CTCF CD4SISSRdata 150291078 150291379 301 0
CTCF G2GSE9613 150285655 150286526 871 0
CTCF G2GSE9613 150287348 150288022 674 0
CTCF G2GSE9613 150288863 150289290 427 0
CTCF G2GSE9613 150289630 150292013 2383 0
CTCF G2GSE9613 150292630 150293358 728 0
CTCF G2GSE9613 150293913 150294318 405 0
CTCF G2GSE9613 150296629 150296823 194 0
CTCF G2GSE9613 150298285 150298747 462 0
CTCF G2GSE9613 150299211 150300930 1719 0
CTCF G2GSE9613 150301710 150303309 1599 0
CTCF G2GSE9613 150303781 150304093 312 0
CTCF G2GSE9613 150304926 150305926 1000 0
ETS1 JurkatGSE17954 150302496 150303349 853 0
Gata1 K562GSE18868 150288318 150288869 551 0
Gata2 K562GSE18868 150287611 150289285 1674 0
H3K27me3 colorectalcancer 150305171 150305526 355 0
H3K4me2 HCT116GSE10453 150305040 150305606 566 0
NRSF mAbJurkat 150286975 150288118 1143 0
TFAP2C MCF7GSE21234 150288987 150289526 539 0
TFAP2C MCF7GSE21234 150292470 150293140 670 0
TFAP2C MCF7GSE21234 150293459 150294297 838 0
hScc1 BcellGSE12603 150285885 150286490 605 0
hScc1 BcellGSE12603 150290347 150292013 1666 0
hScc1 BcellGSE12603 150298437 150298863 426 0
hScc1 BcellGSE12603 150302603 150303274 671 0
hScc1 G2GSE9613 150305606 150305926 320 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-133a hsa-mir-133a-1 18 17344217
hsa-miR-133a hsa-mir-133a-2 20 17344217
hsa-miR-133a hsa-mir-133a-1 18 20056941
hsa-miR-133a hsa-mir-133a-2 20 20056941
hsa-miR-133b hsa-mir-133b 6 17344217
hsa-miR-133b hsa-mir-133b 6 20056941
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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